[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)]. / Blaue-Sklera-Syndrom und Keratoglobus (oculärer Typ des Ehlers-Danlos-Syndroms).
Albrecht Von Graefes Arch Klin Exp Ophthalmol
; 204(4): 235-46, 1977 Dec 31.
Article
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| MEDLINE
| ID: mdl-304682
ABSTRACT
Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS) blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term 'type VIII of EDS'.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Ehlers-Danlos
/
Manifestações Oculares
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
De
Revista:
Albrecht Von Graefes Arch Klin Exp Ophthalmol
Ano de publicação:
1977
Tipo de documento:
Article